Term Name: | Kenny-Caffey syndrome type 1 |
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Synonyms: | |
Definition: | A Kenny-Caffey syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TBCE gene, encoding tubulin-specific chaperone E, on chromosome 1q42. |
Ontology: | Human Disease [DOID:0080722] ( DOID:0080722 ) |